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[Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Du Xuqin, Wang Yiran, Ye Qiao

Abstract excerpt

OBJECTIVE: To carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT). METHODS: High throughput sequencing was performed to detect potential mutation in the coding regions of endoglin (ENG), activin receptor-like kinase 1 (ACVRL1) and mothers against decapentaplegic homolog 4 (SMAD4) genes. RESULTS: A pathogenic...

Topics

Activin Receptors, Type II
Child
Endoglin
Female
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Hypertension, Pulmonary
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 29652991
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.011

Genes

ACVRL1
ENG
SMAD4

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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